Search Results
Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
… to lymphoma. Through the generation of mouse models and the study of patient cells, the Schwartzberg group …
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… Brain Development Gestational Age Integrated Human-Murine Systems Biology Approach AF & Amniocytes (Slonim et … Signaling Pathways E15.5 brain Ts1Cje, Ts65Dn, Dp16Mouse models of DS Mouse Embryos Approach to Preclinical Treatment …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… are currently approved for GNE Myopathy. Studies on mouse models of GNE Myopathy have provided promising data and … enables the production of sialic acid. Studies in mouse models of GNE Myopathy have shown a treatment effect of oral … Ciccone C, Anikster Y, Kurochkina N, Gahl WA, Huizing M. Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: …
News Release
UDN members have published a how-to guide for diagnosing medical mysteries for medical centers nationwide outline the framework for how this can be successful.
Event
On April 10-11, the National Human Genome Research Institute (NHGRI) will sponsor a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC.
… the use of wearable technology. Artificial intelligence models could predict and adjust a patient’s health trajectory …
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… information in existing clinical data standards and models” as a short-term need for the clinical informatics … for health; intensive care unit data to build predictive models for adverse health events; spatiotemporal architecture …
The Genomics Landscape
In the April 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the Telomere-to-Telomere (T2T) consortium's publishing of a collection of papers that reported the first truly complete sequence of the human genome.
… Platform Interoperability Effort (NCPI) , ontologies, data models and standards. … Genomics Research Researchers …
The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
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… Gene and environment risk models: whys and hows …